List of diseases covered by Dilated Cardiomyopathy NGS panel

List of diseases covered by
Dilated Cardiomyopathy NGS panel

Gene Condition
ABCC9 Atrial fibrillation, familial, 12; Dilated cardiomyopathy 1O
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
BAG3 Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2; Myopathy, myofibrillar, fatal infantile hypertonic,
alpha-B crystallin-related
DES Dilated cardiomyopathy 1I
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B;
Duchenne muscular dystrophy
DNAJC19 3-methylglutaconic aciduria, type V
DOLK Congenital disorder of glycosylation, type Im
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
EMD Emery-Dreifuss muscular dystrophy 1, X-linked
EYA4 Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10
GATAD1 Cardiomyopathy, dilated, 2B
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LAMA4 Cardiomyopathy, dilated, 1JJ
LAMP2 Danon disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYPN Cardiomyopathy, dilated, 1KK; Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
RBM20 Cardiomyopathy, dilated, 1DD
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SGCD Cardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle, type 2F
TAZ Barth syndrome
TBX20 Atrial septal defect 4
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement; Salih myopathy;
Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

Dilated Cardiomyopathy NGS panel

Dilated Cardiomyopathy
NGS panel

Genes
(full
coding region):
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, GATAD1, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PKP2, PLN, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: BAG3, TNNT2

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form